Variant report

Variant	rs12632595
Chromosome Location	chr3:105549067-105549068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105538204..105540971-chr3:105547311..105549205,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12054270	0.81[AFR][1000 genomes]
rs16851673	0.81[AFR][1000 genomes]
rs1814078	0.81[AFR][1000 genomes]
rs2028598	0.81[AFR][1000 genomes]
rs2028599	0.81[AFR][1000 genomes]
rs2301028	0.81[AFR][1000 genomes]
rs2301034	0.81[AFR][1000 genomes]
rs2301035	0.81[AFR][1000 genomes]
rs34360428	0.81[AFR][1000 genomes]
rs3772522	0.81[AFR][1000 genomes]
rs3772525	0.81[AFR][1000 genomes]
rs4431143	0.81[AFR][1000 genomes]
rs4469007	0.81[AFR][1000 genomes]
rs62255570	0.81[AFR][1000 genomes]
rs62255571	0.81[AFR][1000 genomes]
rs62256353	0.81[AFR][1000 genomes]
rs62261489	0.81[AFR][1000 genomes]
rs62261491	0.81[AFR][1000 genomes]
rs62261493	0.81[AFR][1000 genomes]
rs62261495	0.81[AFR][1000 genomes]
rs62261498	0.81[AFR][1000 genomes]
rs62261499	0.81[AFR][1000 genomes]
rs62261538	0.83[AFR][1000 genomes]
rs62263169	0.81[AFR][1000 genomes]
rs62263170	0.81[AFR][1000 genomes]
rs7628896	0.81[AFR][1000 genomes]
rs7641527	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
3	chr3:105528400-105553600	Weak transcription	Fetal Kidney	kidney
4	chr3:105532200-105563000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:105533600-105560600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:105533800-105570000	Weak transcription	Dnd41	blood
7	chr3:105534200-105566200	Weak transcription	Brain Germinal Matrix	brain
8	chr3:105535600-105553800	Weak transcription	Fetal Brain Male	brain
9	chr3:105539400-105551600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:105540800-105569600	Weak transcription	Fetal Thymus	thymus
11	chr3:105541000-105554400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:105541800-105553600	Weak transcription	Fetal Brain Female	brain
13	chr3:105542200-105553600	Weak transcription	Liver	Liver
14	chr3:105542200-105554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:105542600-105555400	Weak transcription	Brain Angular Gyrus	brain
16	chr3:105542600-105566000	Weak transcription	Fetal Stomach	stomach
17	chr3:105542800-105554400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:105543000-105555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:105543200-105550200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:105543200-105551600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:105543400-105555800	Weak transcription	HepG2	liver
22	chr3:105543400-105560800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:105543400-105581200	Weak transcription	Gastric	stomach
24	chr3:105543600-105551000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:105543600-105557200	Weak transcription	Fetal Intestine Large	intestine
26	chr3:105543800-105549600	Weak transcription	HSMM	muscle
27	chr3:105543800-105551400	Weak transcription	HSMMtube	muscle
28	chr3:105543800-105571000	Weak transcription	Lung	lung
29	chr3:105544000-105554400	Weak transcription	Fetal Lung	lung
30	chr3:105544200-105554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:105544200-105559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:105544200-105584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:105545400-105553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr3:105545600-105550000	Genic enhancers	Osteobl	bone
35	chr3:105545800-105551800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:105546000-105552400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:105546200-105549800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:105546200-105550400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr3:105546200-105552200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr3:105546400-105552200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:105546600-105550800	Enhancers	Primary B cells from peripheral blood	blood
42	chr3:105546600-105551200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:105546600-105586200	Weak transcription	Esophagus	oesophagus
44	chr3:105546800-105549200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:105546800-105553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:105546800-105560800	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:105547000-105551000	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:105547200-105549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:105547200-105549600	Enhancers	GM12878-XiMat	blood
50	chr3:105547200-105549800	Enhancers	Primary T helper cells PMA-I stimulated	--

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